MCID: CHR359
MIFTS: 19

Chronic Infections, Due to Mbl Deficiency malady

Categories: Genetic diseases, Rare diseases, Immune diseases

Aliases & Classifications for Chronic Infections, Due to Mbl Deficiency

Aliases & Descriptions for Chronic Infections, Due to Mbl Deficiency:

Name: Chronic Infections, Due to Mbl Deficiency 54 13
Mannose-Binding Protein Deficiency 54 24 25 29 69
Mannose-Binding Lectin Deficiency 24 25
Mbl2 Deficiency 24 25
Mbp Deficiency 24 25
Susceptibility to Infection in Immunocompromised Patient 56
Mannose-Binding Lectin Protein Deficiency 25
Mbl Deficiency 25

Classifications:



External Ids:

OMIM 54 614372
Orphanet 56 ORPHA449306

Summaries for Chronic Infections, Due to Mbl Deficiency

Genetics Home Reference : 25 Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels of an immune system protein called mannose-binding lectin in their blood. These individuals are prone to recurrent infections, including infections of the upper respiratory tract and other body systems. People with this condition may also contract more serious infections such as pneumonia and meningitis. Depending on the type of infection, the symptoms caused by the infections vary in frequency and severity.

MalaCards based summary : Chronic Infections, Due to Mbl Deficiency, also known as mannose-binding protein deficiency, is related to mannose-binding lectin protein deficiency and systemic lupus erythematosus. An important gene associated with Chronic Infections, Due to Mbl Deficiency is MBL2 (Mannose Binding Lectin 2). Affiliated tissues include liver.

OMIM : 54 Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of... (614372) more...

Related Diseases for Chronic Infections, Due to Mbl Deficiency

Diseases related to Chronic Infections, Due to Mbl Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 mannose-binding lectin protein deficiency 11.4
2 systemic lupus erythematosus 9.8
3 malaria 9.8
4 hepatitis 9.8
5 hepatitis b 9.8
6 tuberculosis 9.8
7 lupus erythematosus 9.8
8 wallerian degeneration 9.7
9 meningococcemia 9.7

Graphical network of the top 20 diseases related to Chronic Infections, Due to Mbl Deficiency:



Diseases related to Chronic Infections, Due to Mbl Deficiency

Symptoms & Phenotypes for Chronic Infections, Due to Mbl Deficiency

Clinical features from OMIM:

614372

Drugs & Therapeutics for Chronic Infections, Due to Mbl Deficiency

Search Clinical Trials , NIH Clinical Center for Chronic Infections, Due to Mbl Deficiency

Genetic Tests for Chronic Infections, Due to Mbl Deficiency

Genetic tests related to Chronic Infections, Due to Mbl Deficiency:

id Genetic test Affiliating Genes
1 Mannose-Binding Protein Deficiency 29 24 MBL2

Anatomical Context for Chronic Infections, Due to Mbl Deficiency

MalaCards organs/tissues related to Chronic Infections, Due to Mbl Deficiency:

39
Liver

Publications for Chronic Infections, Due to Mbl Deficiency

Variations for Chronic Infections, Due to Mbl Deficiency

ClinVar genetic disease variations for Chronic Infections, Due to Mbl Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MBL2 NM_000242.2(MBL2): c.161G> A (p.Gly54Asp) single nucleotide variant Pathogenic rs1800450 GRCh37 Chromosome 10, 54531235: 54531235
2 MBL2 NM_000242.2(MBL2): c.154C> T (p.Arg52Cys) single nucleotide variant Pathogenic rs5030737 GRCh37 Chromosome 10, 54531242: 54531242

Expression for Chronic Infections, Due to Mbl Deficiency

Search GEO for disease gene expression data for Chronic Infections, Due to Mbl Deficiency.

Pathways for Chronic Infections, Due to Mbl Deficiency

GO Terms for Chronic Infections, Due to Mbl Deficiency

Sources for Chronic Infections, Due to Mbl Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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